Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

• Main Authors: Chih-Ping Chen (Author), Chen-Yu Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Yen-Ni Chen (Author), Shin-Wen Chen (Author), Chen-Chi Lee (Author), Dai-Dyi Town (Author), Meng-Shan Lee (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2016-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. Materials and Methods: A 22-year-old woman underwent amniocentesis at 17 weeks of ges...